Canonical Allele Identifier: CA16616867
Gene: ATP6V1E1 HGNC NCBI

Linked Data

ClinVar Variation Id: 417760
dbSNP Id: rs1028534806

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.17592721G>A , CM000684.2:g.17592721G>A GRCh38
NC_000022.10:g.18075487G>A , CM000684.1:g.18075487G>A GRCh37
NC_000022.9:g.16455487G>A NCBI36
NG_009214.1:g.41102C>T
NG_009214.2:g.41102C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000253413.10:c.634C>T MANE Select ENSP00000253413.5:p.Arg212Trp
ENST00000253413.9:c.634C>T ENSP00000253413.5:p.Arg212Trp
ENST00000399796.6:c.544C>T ENSP00000382694.2:p.Arg182Trp
ENST00000399798.6:c.568C>T ENSP00000382696.2:p.Arg190Trp
ENST00000473248.1:n.780C>T
NM_001039366.1:c.568C>T NP_001034455.1:p.Arg190Trp
NM_001039367.1:c.544C>T NP_001034456.1:p.Arg182Trp
NM_001696.3:c.634C>T NP_001687.1:p.Arg212Trp
NM_001696.4:c.634C>T MANE Select NP_001687.1:p.Arg212Trp